Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the spinal cord (1). SMA is caused by deletion or loss-of-function mutations in the SMN (Survival of Motor Neuron) gene (2). Gemin5, the protein product of human chromosome 5q33.3 (3), associates directly with SMN and is a part of the SMN complex containing Gemin2, Gemin3, Gemin4 and Gemin6 as well as several spliceosomal snRNP proteins (2,4). The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus (2). The SMN complex is found in both the cytoplasm and the nucleus (2). The nuclear form is concentrated in subnuclear bodies called gems (Gemini of the coiled bodies) (2,5,6). Gemin5 interacts with several snRNP core proteins including SmB, SmD1, SmD2, SmD3 and SmE (7). The amino terminal half of Gemin5 contains 13 WD repeat domains and a coiled-coil motif near the SLCterminus (7).
Function:
Gemin 5 is part of a large macromolecular complex localized to both the cytoplasm and the nucleus that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN, Gemin 2 (SIP1), Gemin 3 (DDX20), and Gemin 4.
Subunit:
Part of the core SMN complex that contains SMN1, SIP1/GEMIN2, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts directly with SMN1, SNRPB, SNRPD1, SNRPD2, SNRPD3 and SNRPE.
Subcellular Location:
Nucleus, nucleoplasm. Nucleus, gem. Cytoplasm. Note=Found both in the nucleoplasm and in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. Also found in the cytoplasm.
Similarity:
Belongs to the WD repeat gemin-5 family.
Contains 13 WD repeats.
SWISS:
Q8TEQ6
Gene ID:
25929
Database links:
Entrez Gene: 25929 Human
Entrez Gene: 216766 Mouse
SwissProt: Q8TEQ6 Human
SwissProt: Q3UPH2 Mouse
SwissProt: Q8BX17 Mouse
Unigene: 483921 Human
Unigene: 275349 Mouse
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